Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 7 | 74054770 | splice donor variant | G/A | snv | 6.0E-05 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.080 | 7 | 42045460 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | X | 41210540 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 19 | 6213787 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 1 | 155910695 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 2 | 178577785 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 15 | 34255385 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | X | 154420961 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 11 | 86277110 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 18 | 22181517 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 15 | 63696341 | splice acceptor variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.160 | X | 20193547 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 12 | 112489105 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 7 | 152177839 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 10 | 75030037 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.160 | 2 | 166036149 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 22 | 37973687 | frameshift variant | AGTAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 12 | 112489047 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 12 | 112489048 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 6 | 78958551 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | X | 41343249 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.240 | 12 | 112489104 | missense variant | C/A;G | snv |
|
0.700 | 1.000 | 2 | 2005 | 2006 |